ORPHA:83629
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Also known as: H-SMD · Hypomyelination-spondyloepimetaphyseal dysplasia syndrome · Leukoencephalopathy-SEMD syndrome · Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
305
84.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,078
Distinct authors in sample
Gene link
AIFM1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal . Patients present in infancy with absent or delayed ability to walk independently, slowly motor deterioration, spasticity, , proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly features, among others. Mode of inheritance is X-linked .
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010275
- MeSH:C536671
- MeSH:C567065
- OMIM:300232
- UMLS:C1846148
Additional Mondo synonyms (4)
hypomyelination-spondyloepimetaphyseal dysplasia syndrome · leukoencephalopathy-SEMD syndrome · leukoencephalopathy-metaphyseal chondrodysplasia syndrome · spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — AIFM1
- LiteraturePresent
305 matched papers (284 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (AIFM1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
305
305 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
305 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
284 in the last 10 years · medium confidence · 84.1th percentile (publications denominator)
Phrase hits: 305 · MeSH hits: 0
Who's working on it?
1,078
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Liu Y7 papers · 2026
Gastroenterology Department, Peking University People's Hospital, Beijing 100044, China.
Papers in Europe PMC - 02Zhang Y7 papers · 2026
Shanxi Province Hospital of Traditional Chinese Medicine, Shanxi Provincial Institute of Traditional Chinese Medicine, Taiyuan 030012, China.
Papers in Europe PMC - 03Liu J6 papers · 2025
Department of Public Health and Preventive Medicine, School of Medicine, Jinan University, No. 601 Huangpu Road West, Guangzhou 510632, China.
Papers in Europe PMC - 04Wang Y6 papers · 2023
Department of Respiratory Medicine, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China.
Papers in Europe PMC - 05Zhang J6 papers · 2026
Gansu Province Clinical Research Center of Integrative Anaesthesiology, Gansu Provincial Hospital of Traditional Chinese Medicine, Lanzhou, Gansu, China.
Papers in Europe PMC - 06Chen X5 papers · 2026
Department of Critical Care, The Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC - 07Li S5 papers · 2026
Department of Anesthesiology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China.
Papers in Europe PMC - 08Li Y5 papers · 2026
The Second Clinical College of Guangzhou University of Chinese Medicine, Guangzhou, China.
Papers in Europe PMC - 09Liu X5 papers · 2026
Department of Anesthesiology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China.
Papers in Europe PMC - 10Wang X5 papers · 2025
Joint Surgery, Hong-Hui Hospital, Xi'an Jiaotong University College of Medicine, Xi'an, 710054, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category spondyloepimetaphyseal dysplasia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: spondyloepimetaphyseal dysplasia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome" OR "H-SMD" OR "Hypomyelination-spondyloepimetaphyseal dysplasia syndrome" OR "Leukoencephalopathy-SEMD syndrome" OR "Leukoencephalopathy-metaphyseal chondrodysplasia syndrome" OR "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive"
MeSH descriptor terms unioned into the query: Skeletal dysplasia coarse facies mental retardation; [OBSOLETE] Leukoencephalopathy With Metaphyseal Chondrodysplasia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome" OR "H-SMD" OR "Hypomyelination-spondyloepimetaphyseal dysplasia syndrome" OR "Leukoencephalopathy-SEMD syndrome" OR "Leukoencephalopathy-metaphyseal chondrodysplasia syndrome" OR "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive" OR "Skeletal dysplasia coarse facies mental retardation" OR "[OBSOLETE] Leukoencephalopathy With Metaphyseal Chondrodysplasia" OR "AIFM1"
Recall-expansion terms: AIFM1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"spondyloepimetaphyseal dysplasia"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (305) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T02:41:48.927Z